{"id":6004,"date":"2026-10-19T09:48:21","date_gmt":"2026-10-19T09:48:21","guid":{"rendered":"https:\/\/phd.hi.is\/doktorsvorn\/doktorsvorn-i-lif-og-laeknavisindum-vigdis-stefansdottir\/"},"modified":"2026-10-19T09:48:21","modified_gmt":"2026-10-19T09:48:21","slug":"doktorsvorn-i-lif-og-laeknavisindum-vigdis-stefansdottir","status":"publish","type":"phd_defence","link":"https:\/\/phd.hi.is\/en\/doktorsvorn\/doktorsvorn-i-lif-og-laeknavisindum-vigdis-stefansdottir\/","title":{"rendered":"Doktorsv\u00f6rn \u00ed l\u00edf- og l\u00e6knav\u00edsindum – Vigd\u00eds Stef\u00e1nsd\u00f3ttir"},"content":{"rendered":"
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M\u00e1nudaginn 9. september ver Vigd\u00eds Stef\u00e1nsd\u00f3ttir doktorsritger\u00f0 s\u00edna \u00ed l\u00edf- og l\u00e6knav\u00edsindum vi\u00f0 L\u00e6knadeild H\u00e1sk\u00f3la \u00cdslands. Ritger\u00f0in ber heiti\u00f0: Notkun rafr\u00e6nna gagnagrunna \u00ed krabbameinserf\u00f0ar\u00e1\u00f0gj\u00f6f. Electronic Genealogy and Cancer Databases in Cancer Genetic Counselling.<\/p>\n

Andm\u00e6lendur eru dr. Alison Metcalfe, pr\u00f3fessor vi\u00f0 Sheffield Hallam University \u00ed Englandi, og dr. \u00c1str\u00ed\u00f0ur P\u00e1lsd\u00f3ttir, ranns\u00f3knarpr\u00f3fessor emerita.<\/p>\n

Umsj\u00f3narkennari og lei\u00f0beinandi voru dr. J\u00f3n J\u00f3hannes J\u00f3nsson, pr\u00f3fessor vi\u00f0 L\u00e6knadeild, og dr. Heather Skirton, pr\u00f3fessor emerita. Auk \u00feeirra s\u00e1tu \u00ed doktorsnefnd dr. Hrafn Tulinius pr\u00f3fessor, dr. Laufey Tryggvad\u00f3ttir, kl\u00edn\u00edskur pr\u00f3fessor, og dr. \u00d3skar \u00de\u00f3r J\u00f3hannsson, s\u00e9rfr\u00e6\u00f0ingur.<\/p>\n

Engilbert Sigur\u00f0sson, pr\u00f3fessor og forseti L\u00e6knadeildar, stj\u00f3rnar ath\u00f6fninni sem fer fram \u00ed H\u00e1t\u00ed\u00f0asal H\u00e1sk\u00f3la \u00cdslands\u00a0 kl. 10:00 – 14:00.<\/p>\n

\u00c1grip af ranns\u00f3kn<\/strong><\/p>\n

Meginmarkmi\u00f0 ranns\u00f3knarinnar var a\u00f0 kanna notkun rafr\u00e6nna \u00e6ttfr\u00e6\u00f0i- og krabbameinsgrunna \u00ed erf\u00f0ar\u00e1\u00f0gj\u00f6f og hvernig sl\u00edkir grunnar n\u00fdtast til a\u00f0 b\u00faa til rafr\u00e6n \u00e6ttartr\u00e9 fyrir \u00e1h\u00e6ttumat \u00ed krabbameinserf\u00f0ar\u00e1\u00f0gj\u00f6f. \u00cdslenska landnemabreytingin \u00ed BRCA2 geni var notu\u00f0 sem d\u00e6mi.<\/p>\n

Nota\u00f0ar voru \u00ferj\u00e1r mismunandi a\u00f0fer\u00f0ir. Ger\u00f0 var kerfisbundin leit a\u00f0 greinum sem l\u00fdstu notkun rafr\u00e6nna \u00e6ttfr\u00e6\u00f0i- og krabbameinsgrunna \u00ed kl\u00edn\u00edskri \u00fej\u00f3nustu og virtist sl\u00edk notkun l\u00edtil e\u00f0a mj\u00f6g takm\u00f6rku\u00f0.<\/p>\n

Ger\u00f0 var eigindleg ranns\u00f3kn \u00fear sem k\u00f6nnu\u00f0 var upplifun og reynsla r\u00e1\u00f0\u00feega \u00ed krabbameinserf\u00f0ar\u00e1\u00f0gj\u00f6f \u00fear sem notu\u00f0 eru rafr\u00e6n \u00e6ttartr\u00e9. G\u00f6gnum var safna\u00f0 gegnum vef-r\u00fdnih\u00f3pa og \u00f6ll umr\u00e6\u00f0a f\u00f3r fram \u00e1 netinu. \u00de\u00e1tttakendur voru j\u00e1kv\u00e6\u00f0ir gagnvart ger\u00f0 og notkun rafr\u00e6nna \u00e6ttfr\u00e6\u00f0igrunna. Fj\u00f6lskyldusamskipti voru \u00fdmist \u00f3breytt e\u00f0a h\u00f6f\u00f0u batna\u00f0 \u00ed kj\u00f6lfar ni\u00f0urst\u00f6\u00f0u erf\u00f0aranns\u00f3kna.<\/p>\n

Reynsla af notkun rafr\u00e6nna \u00e6ttartrj\u00e1a var metin \u00e1samt \u00fev\u00ed a\u00f0 reikna \u00fat bestu m\u00f6gulegu st\u00e6r\u00f0 fyrir \u00e1h\u00e6ttumat. Notkun rafr\u00e6nna \u00e6ttartrj\u00e1a \u00ed krabbameinserf\u00f0ar\u00e1\u00f0gj\u00f6f gefur m\u00f6guleika \u00e1 a\u00f0 gera n\u00e1kv\u00e6mt og yfirgripsmiki\u00f0 \u00e1h\u00e6ttumat og minnkar kostna\u00f0 fr\u00e1 \u00fev\u00ed a\u00f0 nota hef\u00f0bundin handteiknu\u00f0 \u00e6ttartr\u00e9. ROC l\u00ednurit (Reciver Operation Curves) og C-gildi sem byggt var \u00e1 samabur\u00f0i para\u00f0ra gilda var nota\u00f0 til a\u00f0 meta \u00e1hrif st\u00e6kkandi \u00e6ttartrj\u00e1a \u00e1 l\u00edkur \u00feess a\u00f0 bera breytingu BRCA2 geni. Bestu ni\u00f0urst\u00f6\u00f0ur fengust me\u00f0 \u00e6ttartrj\u00e1m sem innih\u00e9ldu 3\u00b0 \u00e6ttingja. Ritger\u00f0in endurspeglar kl\u00edn\u00edska reynslu vi\u00f0 notkun rafr\u00e6nna \u00e6ttartrj\u00e1a en \u00feessi a\u00f0fer\u00f0 er vel \u00fer\u00f3u\u00f0 \u00e1 \u00cdslandi og hefur veri\u00f0 notu\u00f0 \u00ed r\u00famlega 13 \u00e1r. V\u00ed\u00f0a um heim eru til rafr\u00e6n \u00e6ttfr\u00e6\u00f0ig\u00f6gn og krabbameinsskr\u00e1r sem nota m\u00e6tti til a\u00f0 gera sl\u00edk \u00e6ttartr\u00e9 en \u00fea\u00f0 g\u00e6ti spara\u00f0 vinnu og peninga \u00ed erf\u00f0ar\u00e1\u00f0gj\u00f6f.<\/p>\n

Abstract<\/strong><\/p>\n

The overall aim of this PhD thesis was to cohesively assess the availability and use of electronic genealogy databases and information from cancer registries to construct electronically generated pedigrees for risk assessment in genetic counselling. Hereditary breast and ovarian cancer (HBOC), due to the Icelandic founder BRCA2 PV was used as an example.<\/p>\n

Published data on the use of such databases was limited. A qualitative study found the majority of participants were positive towards the use of electronic pedigrees and that family communication following genetic counselling was unchanged or better.<\/p>\n

Receiver Operation Curves (ROC) and C-statistics based on pair-wise comparison was used to evaluate the effect of pedigree size on the prediction of the presence of the Icelandic founder BRCA2 PV. Optimal results were attained using pedigrees with 3\u00b0 relatives. Adding 4\u00b0 relatives did not improve the outcome. Conventional methods of collecting and constructing large enough pedigrees are time consuming and difficult compared to our approach which is well established in Iceland and has been used for over 13 years in cancer genetic counselling. It is efficient and without complications such as breach of data and mistrust on behalf of the counsellees. We suggest that available genealogy and cancer registry data should be used to generate electronic pedigrees to save workforce and money in genetic counselling.<\/p>\n

Um doktorsefni\u00f0<\/strong><\/p>\n

Vigd\u00eds Stef\u00e1nsd\u00f3ttir er f\u00e6dd \u00e1ri\u00f0 1956. H\u00fan lauk n\u00e1mi \u00ed hagn\u00fdtri fj\u00f6lmi\u00f0lun \u00e1ri\u00f0 2001 fr\u00e1 H\u00e1sk\u00f3la \u00cdslands. \u00cd kj\u00f6lfari\u00f0 s\u00f3tti h\u00fan um meistaran\u00e1m \u00ed erf\u00f0ar\u00e1\u00f0gj\u00f6f vi\u00f0 Cardiff University. Til undirb\u00fanings var sett saman s\u00e9rsni\u00f0in n\u00e1mslei\u00f0 \u00ed heilbrig\u00f0isv\u00edsindum. Vigd\u00eds lauk meistaran\u00e1mi fr\u00e1 Cardiff University 2006 og h\u00f3f starf vi\u00f0 Landsp\u00edtala \u00ed j\u00fan\u00ed \u00fea\u00f0 \u00e1r vi\u00f0 a\u00f0 byggja upp erf\u00f0ar\u00e1\u00f0gj\u00f6f innan Erf\u00f0a- og sameindal\u00e6knisfr\u00e6\u00f0ideildar. Samhli\u00f0a \u00feeirri vinnu h\u00f3f Vigd\u00eds doktorsn\u00e1m vi\u00f0 H\u00e1sk\u00f3la \u00cdslands og hefur jafnframt unni\u00f0 \u00fdmis ranns\u00f3knar-\u00a0 og fr\u00e6\u00f0sluverkefni \u00ed samstarfi vi\u00f0 al\u00fej\u00f3\u00f0lega ranns\u00f3knarh\u00f3pa. Foreldrar Vigd\u00edsar voru \u00feau Stef\u00e1n Agnar Magn\u00fasson og \u00c1rn\u00fd Fj\u00f3la Stef\u00e1nsd\u00f3ttir. Vigd\u00eds \u00e1 4 b\u00f6rn og 7 barnab\u00f6rn.\u00a0\u00a0<\/p>\n<\/div><\/div>","protected":false},"featured_media":1226,"template":"","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"_phd_date_start":"2019-09-09T10:00:00+00:00","_phd_date_end":"2019-09-09T14:00:00+00:00","_phd_location":"A\u00f0albygging H\u00e1t\u00ed\u00f0asalur","_phd_admission":"A\u00f0gangur \u00f3keypis","_phd_thesis_title":"Notkun rafr\u00e6nna gagnagrunna \u00ed krabbameinserf\u00f0ar\u00e1\u00f0gj\u00f6f. 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